LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 10

Search options

  1. Article ; Online: Rhinorrhea following SARS-CoV-2 nasopharyngeal swab: A case for β2-transferrin testing.

    Perneczky, Julian / Neuchrist, Csilla / Sellner, Johann

    European journal of neurology

    2021  Volume 28, Issue 11, Page(s) 3552–3553

    MeSH term(s) COVID-19 ; Humans ; Nasopharynx ; Rhinorrhea ; SARS-CoV-2 ; Transferrin
    Chemical Substances Transferrin
    Language English
    Publishing date 2021-05-06
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.14883
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  2. Article ; Online: A global view of comorbidity in multiple sclerosis: a systematic review with a focus on regional differences, methodology, and clinical implications.

    Hauer, Larissa / Perneczky, Julian / Sellner, Johann

    Journal of neurology

    2020  Volume 268, Issue 11, Page(s) 4066–4077

    Abstract: Multiple sclerosis (MS) is a chronic autoimmune disorder of the central nervous system which is associated with numerous comorbidities. These include cardiovascular disease, psychiatric and neurologic disturbances, restless leg syndrome, migraine, cancer, ...

    Abstract Multiple sclerosis (MS) is a chronic autoimmune disorder of the central nervous system which is associated with numerous comorbidities. These include cardiovascular disease, psychiatric and neurologic disturbances, restless leg syndrome, migraine, cancer, autoimmune diseases, and metabolic disorders. Comorbid disease is an important consideration for clinicians treating patients with MS; early presentation of comorbidities can obscure or delay MS diagnosis, as well as significantly impacting the disease course. Improved understanding of comorbidities and their emergence in MS populations is important for improving the quality of life and optimizing treatment for patients. Therefore, we evaluated published studies reporting epidemiologic data on comorbidities and their associated impact on disease progression in patients with MS (PwMS). The prevalence of neurologic, cardiovascular, metabolic, and autoimmune comorbidities was elevated in PwMS in general, and furthermore, this adversely affected a broad range of outcomes. Compared with PwMS, cancer rates in people without MS or the general population were lower, which should prompt further studies into the mechanisms of both diseases. Studies were under-represented in many regions owing to the latitudinal gradient of MS and possible underfunding of studies.
    MeSH term(s) Chronic Disease ; Comorbidity ; Disease Progression ; Humans ; Multiple Sclerosis/epidemiology ; Quality of Life
    Language English
    Publishing date 2020-07-27
    Publishing country Germany
    Document type Journal Article ; Review ; Systematic Review
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-020-10107-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  3. Article ; Online: Peripheral neuropathy due to neuroborreliosis: Insensitivity for CXCL13 as early diagnostic marker.

    Gubanova, Kristina / Lang, Julia / Latzko, Juliane / Novotna, Bianka / Perneczky, Julian / Pingitzer, Stefan / Purer, Petra / Wuchty, Bianca / Waiß, Christoph / Sellner, Johann

    International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

    2021  Volume 105, Page(s) 460–462

    Abstract: The case of a 69-year-old woman with peripheral neuropathy caused by Lyme neuroborreliosis (LNB) in an endemic region in Eastern Austria is reported. The patient had noticed transient numbness of her left leg. On initial examination, she had patchy ... ...

    Abstract The case of a 69-year-old woman with peripheral neuropathy caused by Lyme neuroborreliosis (LNB) in an endemic region in Eastern Austria is reported. The patient had noticed transient numbness of her left leg. On initial examination, she had patchy sensory disturbances of the left lower leg, but ancillary examinations of nerve conduction and cerebrospinal fluid (CSF), including the B-cell chemokine CXCL13, were normal. A re-tap performed 54 days later, following clinical progression with foot drop, widespread lower leg paresthesia, and pain, revealed an increased cell count, autochthonous IgM production, synthesis of Borrelia-specific IgM, and elevated CXCL13. Neurophysiological examinations disclosed an incomplete conduction block, mixed axonal and demyelinating sensorimotor neuropathy, and subacute neurogenic damage of muscles innervated by the peroneal nerve. This case study presents rare evidence of very early diagnostic findings in peripheral neuropathy caused by LNB. These are characterized by insensitivity of CXCL13 in CSF to aid earlier diagnosis and the development of an intrathecal immune response against Borrelia at a later stage. These findings reinforce the need for a re-tap to confirm the diagnosis and facilitate appropriate treatment in this rare manifestation of LNB.
    MeSH term(s) Aged ; Austria ; B-Lymphocytes/immunology ; Biomarkers/cerebrospinal fluid ; Borrelia/immunology ; Chemokine CXCL13/cerebrospinal fluid ; Female ; Humans ; Lyme Neuroborreliosis/complications ; Lyme Neuroborreliosis/pathology ; Peripheral Nervous System Diseases/diagnosis ; Peripheral Nervous System Diseases/etiology ; Peripheral Nervous System Diseases/pathology
    Chemical Substances Biomarkers ; CXCL13 protein, human ; Chemokine CXCL13
    Language English
    Publishing date 2021-03-05
    Publishing country Canada
    Document type Case Reports
    ZDB-ID 1331197-9
    ISSN 1878-3511 ; 1201-9712
    ISSN (online) 1878-3511
    ISSN 1201-9712
    DOI 10.1016/j.ijid.2021.02.050
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  4. Article ; Online: Short- and long-term outcome and predictors in an international cohort of patients with neuro-COVID-19.

    Beghi, Ettore / Helbok, Raimund / Ozturk, Serefnur / Karadas, Omer / Lisnic, Vitalie / Grosu, Oxana / Kovács, Tibor / Dobronyi, Levente / Bereczki, Daniel / Cotelli, Maria Sofia / Turla, Marinella / Davidescu, Eugenia Irene / Popescu, Bogdan Ovidiu / Valzania, Franco / Cavallieri, Francesco / Ulmer, Hanno / Maia, Luis F / Amodt, Anne Hege / Armon, Carmel /
    Brola, Waldemer / Victoria, Gryb / Riahi, Anis / Krehan, Ingomar / von Oertzen, Tim / Azab, Mohammed A / Crean, Michael / Lolich, Maria / Lima, Maria João / Sellner, Johann / Perneczky, Julian / Jenkins, Tom / Meoni, Sara / Bianchi, Elisa / Moro, Elena / Bassetti, Claudio L A

    European journal of neurology

    2022  Volume 29, Issue 6, Page(s) 1663–1684

    Abstract: Background and purpose: Despite the increasing number of reports on the spectrum of neurological manifestations of COVID-19 (neuro-COVID), few studies have assessed short- and long-term outcome of the disease.: Methods: This is a cohort study ... ...

    Abstract Background and purpose: Despite the increasing number of reports on the spectrum of neurological manifestations of COVID-19 (neuro-COVID), few studies have assessed short- and long-term outcome of the disease.
    Methods: This is a cohort study enrolling adult patients with neuro-COVID seen in neurological consultation. Data were collected prospectively or retrospectively in the European Academy of Neurology NEuro-covid ReGistrY ((ENERGY). The outcome at discharge was measured using the modified Rankin Scale and defined as 'stable/improved' if the modified Rankin Scale score was equal to or lower than the pre-morbid score, 'worse' if the score was higher than the pre-morbid score. Status at 6 months was also recorded. Demographic and clinical variables were assessed as predictors of outcome at discharge and 6 months.
    Results: From July 2020 to March 2021, 971 patients from 19 countries were included. 810 (83.4%) were hospitalized. 432 (53.3%) were discharged with worse functional status. Older age, stupor/coma, stroke and intensive care unit (ICU) admission were predictors of worse outcome at discharge. 132 (16.3%) died in hospital. Older age, cancer, cardiovascular complications, refractory shock, stupor/coma and ICU admission were associated with death. 262 were followed for 6 months. Acute stroke or ataxia, ICU admission and degree of functional impairment at discharge were predictors of worse outcome. 65/221 hospitalized patients (29.4%) and 10/32 non-hospitalized patients (24.4%) experienced persisting neurological symptoms/signs. 10/262 patients (3.8%) developed new neurological complaints during the 6 months of follow-up.
    Conclusions: Neuro-COVID is a severe disease associated with worse functional status at discharge, particularly in older subjects and those with comorbidities and acute complications of infection.
    MeSH term(s) Adult ; Aged ; COVID-19/complications ; Cohort Studies ; Coma ; Humans ; Intensive Care Units ; Neurology ; Retrospective Studies ; SARS-CoV-2 ; Stroke/epidemiology ; Stroke/therapy ; Stupor
    Language English
    Publishing date 2022-03-07
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.15293
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  5. Article ; Online: Feasibility of short imaging protocols for [

    Song, Mengmeng / Scheifele, Maximilian / Barthel, Henryk / van Eimeren, Thilo / Beyer, Leonie / Marek, Ken / Eckenweber, Florian / Palleis, Carla / Kaiser, Lena / Finze, Anika / Kern, Maike / Nitschmann, Alexander / Biechele, Gloria / Katzdobler, Sabrina / Bischof, Gèrard / Hammes, Jochen / Jessen, Frank / Saur, Dorothee / Schroeter, Matthias L /
    Rumpf, Jost-Julian / Rullmann, Michael / Schildan, Andreas / Patt, Marianne / Neumaier, Bernd / Stephens, Andrew W / Rauchmann, Boris-Stephan / Perneczky, Robert / Levin, Johannes / Classen, Joseph / Höglinger, Günter U / Bartenstein, Peter / Boening, Guido / Ziegler, Sibylle / Villemagne, Victor / Drzezga, Alexander / Seibyl, John / Sabri, Osama / Brendel, Matthias

    European journal of nuclear medicine and molecular imaging

    2021  Volume 48, Issue 12, Page(s) 3872–3885

    Abstract: Purpose: Dynamic 60-min positron emission tomography (PET) imaging with the novel tau radiotracer [: Methods: Thirty-seven patients with PSP Richardson syndrome (PSP-RS) were evaluated together with ten HCs. [: Results: 0-50 and 0-40 DVR showed ... ...

    Abstract Purpose: Dynamic 60-min positron emission tomography (PET) imaging with the novel tau radiotracer [
    Methods: Thirty-seven patients with PSP Richardson syndrome (PSP-RS) were evaluated together with ten HCs. [
    Results: 0-50 and 0-40 DVR showed equivalent effect sizes as 0-60 DVR (averaged Cohen's d: 1.22 and 1.16 vs. 1.26), whereas the performance dropped for 0-30 or 0-20 DVR. The 20-40 SUVr indicated the best performance of all static acquisition windows (averaged Cohen's d: 0.99). The globus pallidus internus discriminated patients with PSP-RS and HCs at a similarly high level for 0-60 DVR (AUC: 0.96), 0-40 DVR (AUC: 0.96), and 20-40 SUVr (AUC: 0.94). The multi-region classifier sensitivity of these time windows was consistently 86%.
    Conclusion: Truncated and static imaging windows can be used for [
    MeSH term(s) Alzheimer Disease ; Feasibility Studies ; Humans ; Positron-Emission Tomography ; Supranuclear Palsy, Progressive/diagnostic imaging ; tau Proteins
    Chemical Substances tau Proteins
    Language English
    Publishing date 2021-05-22
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 8236-3
    ISSN 1619-7089 ; 0340-6997 ; 1619-7070
    ISSN (online) 1619-7089
    ISSN 0340-6997 ; 1619-7070
    DOI 10.1007/s00259-021-05391-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  6. Article ; Online: Additive value of [

    Katzdobler, Sabrina / Nitschmann, Alexander / Barthel, Henryk / Bischof, Gerard / Beyer, Leonie / Marek, Ken / Song, Mengmeng / Wagemann, Olivia / Palleis, Carla / Weidinger, Endy / Nack, Anne / Fietzek, Urban / Kurz, Carolin / Häckert, Jan / Stapf, Theresa / Ferschmann, Christian / Scheifele, Maximilian / Eckenweber, Florian / Biechele, Gloria /
    Franzmeier, Nicolai / Dewenter, Anna / Schönecker, Sonja / Saur, Dorothee / Schroeter, Matthias L / Rumpf, Jost-Julian / Rullmann, Michael / Schildan, Andreas / Patt, Marianne / Stephens, Andrew W / van Eimeren, Thilo / Neumaier, Bernd / Drzezga, Alexander / Danek, Adrian / Classen, Joseph / Bürger, Katharina / Janowitz, Daniel / Rauchmann, Boris-Stephan / Stöcklein, Sophia / Perneczky, Robert / Schöberl, Florian / Zwergal, Andreas / Höglinger, Günter U / Bartenstein, Peter / Villemagne, Victor / Seibyl, John / Sabri, Osama / Levin, Johannes / Brendel, Matthias

    European journal of nuclear medicine and molecular imaging

    2022  Volume 50, Issue 2, Page(s) 423–434

    Abstract: Purpose: Early after [: Methods: Seventy-eight patients with 4RTs (71 ± 7 years, 39 female), 79 patients with other neurodegenerative diseases (67 ± 12 years, 35 female) and twelve age-matched controls (69 ± 8 years, 8 female) underwent dynamic (0-60  ...

    Abstract Purpose: Early after [
    Methods: Seventy-eight patients with 4RTs (71 ± 7 years, 39 female), 79 patients with other neurodegenerative diseases (67 ± 12 years, 35 female) and twelve age-matched controls (69 ± 8 years, 8 female) underwent dynamic (0-60 min) [
    Results: Patients with 4RTs had significant hypoperfusion in 21/246 brain regions, most dominant in thalamus, caudate nucleus, and anterior cingulate cortex, fitting to the topology of the 4RT disease spectrum. However, single region hypoperfusion was not specific regarding the discrimination of patients with 4RTs against patients with other neurodegenerative diseases. In contrast, perfusion pattern expression showed promise for discrimination of patients with 4RTs from other neurodegenerative diseases (AUC: 0.850). Discrimination by the combined perfusion-tau pattern expression (AUC: 0.903) exceeded that of the sole tau pattern expression (AUC: 0.864) and the discriminatory power of the combined perfusion-tau pattern expression was replicated in the external dataset (AUC: 0.917). Perfusion but not tau pattern expression was associated with PSP rating scale (R = 0.402; p = 0.0012) and activities of daily living (R =  - 0.431; p = 0.0005).
    Conclusion: [
    MeSH term(s) Aged ; Female ; Humans ; Middle Aged ; Activities of Daily Living ; Alzheimer Disease/complications ; Corticobasal Degeneration/diagnostic imaging ; Neurodegenerative Diseases/diagnostic imaging ; Positron-Emission Tomography ; Supranuclear Palsy, Progressive/diagnostic imaging
    Chemical Substances PI-2620
    Language English
    Publishing date 2022-09-14
    Publishing country Germany
    Document type Journal Article ; Comment
    ZDB-ID 8236-3
    ISSN 1619-7089 ; 0340-6997 ; 1619-7070
    ISSN (online) 1619-7089
    ISSN 0340-6997 ; 1619-7070
    DOI 10.1007/s00259-022-05964-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  7. Article ; Online: Alzheimer's disease pathology explains association between dementia with Lewy bodies and APOE-ε4/TOMM40 long poly-T repeat allele variants.

    Prokopenko, Inga / Miyakawa, Gentaro / Zheng, Bang / Heikkinen, Jani / Petrova Quayle, Daniela / Udeh-Momoh, Chinedu / Claringbould, Annique / Neumann, Juliane / Haytural, Hazal / Kaakinen, Marika A / Loizidou, Elena / Meissner, Esther / Bertram, Lars / Gveric, Djordje O / Gentleman, Steve M / Attems, Johannes / Perneczky, Robert / Arzberger, Thomas / Muglia, Pierandrea /
    Lill, Christina M / Parkkinen, Laura / Middleton, Lefkos T

    Alzheimer's & dementia (New York, N. Y.)

    2019  Volume 5, Page(s) 814–824

    Abstract: Introduction: The role of : Methods: We dissected genetic profiles within the : Results: TOMM: Discussion: ... ...

    Abstract Introduction: The role of
    Methods: We dissected genetic profiles within the
    Results: TOMM
    Discussion: APOE
    Language English
    Publishing date 2019-11-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2832891-7
    ISSN 2352-8737 ; 2352-8737
    ISSN (online) 2352-8737
    ISSN 2352-8737
    DOI 10.1016/j.trci.2019.08.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  8. Article ; Online: Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

    Zech, Michael / Nübling, Georg / Castrop, Florian / Jochim, Angela / Schulte, Eva C / Mollenhauer, Brit / Lichtner, Peter / Peters, Annette / Gieger, Christian / Marquardt, Thorsten / Vanier, Marie T / Latour, Philippe / Klünemann, Hans / Trenkwalder, Claudia / Diehl-Schmid, Janine / Perneczky, Robert / Meitinger, Thomas / Oexle, Konrad / Haslinger, Bernhard /
    Lorenzl, Stefan / Winkelmann, Juliane

    PloS one

    2013  Volume 8, Issue 12, Page(s) e82879

    Abstract: Niemann-Pick type C (NPC) disease is a rare autosomal-recessively inherited lysosomal storage disorder caused by mutations in NPC1 (95%) or NPC2. Given the highly variable phenotype, diagnosis is challenging and particularly late-onset forms with ... ...

    Abstract Niemann-Pick type C (NPC) disease is a rare autosomal-recessively inherited lysosomal storage disorder caused by mutations in NPC1 (95%) or NPC2. Given the highly variable phenotype, diagnosis is challenging and particularly late-onset forms with predominantly neuropsychiatric presentations are likely underdiagnosed. Pathophysiologically, genetic alterations compromising the endosomal/lysosomal system are linked with age-related neurodegenerative disorders. We sought to examine a possible association of rare sequence variants in NPC1 and NPC2 with Parkinson's disease (PD), frontotemporal lobar degeneration (FTLD) and progressive supranuclear palsy (PSP), and to genetically determine the proportion of potentially misdiagnosed NPC patients in these neurodegenerative conditions. By means of high-resolution melting, we screened the coding regions of NPC1 and NPC2 for rare genetic variation in a homogenous German sample of patients clinically diagnosed with PD (n = 563), FTLD (n = 133) and PSP (n = 94), and 846 population-based controls. The frequencies of rare sequence variants in NPC1/2 did not differ significantly between patients and controls. Disease-associated NPC1/2 mutations were found in six PD patients (1.1%) and seven control subjects (0.8%), but not in FTLD or PSP. All rare variation was detected in the heterozygous state and no compound heterozygotes were observed. Our data do not support the hypothesis that rare NPC1/2 variants confer susceptibility for PD, FTLD, or PSP in the German population. Misdiagnosed NPC patients were not present in our samples. However, further assessment of NPC disease genes in age-related neurodegeneration is warranted.
    MeSH term(s) Age Factors ; Aging/genetics ; Carrier Proteins/genetics ; Female ; Frontotemporal Lobar Degeneration/genetics ; Genetic Association Studies ; Genetic Variation ; Glycoproteins/genetics ; Humans ; Intracellular Signaling Peptides and Proteins ; Male ; Membrane Glycoproteins/genetics ; Neurodegenerative Diseases/genetics ; Niemann-Pick Diseases/genetics ; Parkinson Disease/genetics ; Supranuclear Palsy, Progressive/genetics ; Vesicular Transport Proteins
    Chemical Substances Carrier Proteins ; Glycoproteins ; Intracellular Signaling Peptides and Proteins ; Membrane Glycoproteins ; NPC1 protein, human ; NPC2 protein, human ; Vesicular Transport Proteins
    Language English
    Publishing date 2013-12-30
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0082879
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  9. Article ; Online: Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.

    Schulte, Eva C / Fukumori, Akio / Mollenhauer, Brit / Hor, Hyun / Arzberger, Thomas / Perneczky, Robert / Kurz, Alexander / Diehl-Schmid, Janine / Hüll, Michael / Lichtner, Peter / Eckstein, Gertrud / Zimprich, Alexander / Haubenberger, Dietrich / Pirker, Walter / Brücke, Thomas / Bereznai, Benjamin / Molnar, Maria J / Lorenzo-Betancor, Oswaldo / Pastor, Pau /
    Peters, Annette / Gieger, Christian / Estivill, Xavier / Meitinger, Thomas / Kretzschmar, Hans A / Trenkwalder, Claudia / Haass, Christian / Winkelmann, Juliane

    European journal of human genetics : EJHG

    2015  Volume 23, Issue 10, Page(s) 1328–1333

    Abstract: Many individuals with Parkinson's disease (PD) develop cognitive deficits, and a phenotypic and molecular overlap between neurodegenerative diseases exists. We investigated the contribution of rare variants in seven genes of known relevance to dementias ( ...

    Abstract Many individuals with Parkinson's disease (PD) develop cognitive deficits, and a phenotypic and molecular overlap between neurodegenerative diseases exists. We investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (APP), PSEN1/2, MAPT (microtubule-associated protein tau), fused in sarcoma (FUS), granulin (GRN) and TAR DNA-binding protein 43 (TDP-43)) to PD and PD plus dementia (PD+D) in a discovery sample of 376 individuals with PD and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency <5% in 975 individuals with PD, 93 cases with Lewy body disease on neuropathological examination, 613 individuals with Alzheimer's disease (AD), 182 cases with frontotemporal dementia and 1014 general population controls. Variants identified in APP were functionally followed up by Aβ mass spectrometry in transiently transfected HEK293 cells. PD+D cases harbored more rare variants across all the seven genes than PD individuals without dementia, and rare variants in APP were more common in PD cases overall than in either the AD cases or controls. When additional controls from publically available databases were added, one rare variant in APP (c.1795G>A(p.(E599K))) was significantly associated with the PD phenotype but was not found in either the PD cases or controls of an independent replication sample. One of the identified rare variants (c.2125G>A (p.(G709S))) shifted the Aβ spectrum from Aβ40 to Aβ39 and Aβ37. Although the precise mechanism remains to be elucidated, our data suggest a possible role for APP in modifying the PD phenotype as well as a general contribution of genetic factors to the development of dementia in individuals with PD.
    MeSH term(s) Aged ; Alzheimer Disease/genetics ; Amyloid beta-Protein Precursor/genetics ; Cell Line ; DNA-Binding Proteins/genetics ; Dementia/genetics ; Female ; Gene Frequency/genetics ; Genetic Variation/genetics ; Genotype ; HEK293 Cells ; Humans ; Male ; Neurodegenerative Diseases/genetics ; Parkinson Disease/genetics
    Chemical Substances Amyloid beta-Protein Precursor ; DNA-Binding Proteins
    Language English
    Publishing date 2015-01-21
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2014.300
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  10. Article ; Online: Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

    Michael Zech / Georg Nübling / Florian Castrop / Angela Jochim / Eva C Schulte / Brit Mollenhauer / Peter Lichtner / Annette Peters / Christian Gieger / Thorsten Marquardt / Marie T Vanier / Philippe Latour / Hans Klünemann / Claudia Trenkwalder / Janine Diehl-Schmid / Robert Perneczky / Thomas Meitinger / Konrad Oexle / Bernhard Haslinger /
    Stefan Lorenzl / Juliane Winkelmann

    PLoS ONE, Vol 8, Iss 12, p e

    2013  Volume 82879

    Abstract: Niemann-Pick type C (NPC) disease is a rare autosomal-recessively inherited lysosomal storage disorder caused by mutations in NPC1 (95%) or NPC2. Given the highly variable phenotype, diagnosis is challenging and particularly late-onset forms with ... ...

    Abstract Niemann-Pick type C (NPC) disease is a rare autosomal-recessively inherited lysosomal storage disorder caused by mutations in NPC1 (95%) or NPC2. Given the highly variable phenotype, diagnosis is challenging and particularly late-onset forms with predominantly neuropsychiatric presentations are likely underdiagnosed. Pathophysiologically, genetic alterations compromising the endosomal/lysosomal system are linked with age-related neurodegenerative disorders. We sought to examine a possible association of rare sequence variants in NPC1 and NPC2 with Parkinson's disease (PD), frontotemporal lobar degeneration (FTLD) and progressive supranuclear palsy (PSP), and to genetically determine the proportion of potentially misdiagnosed NPC patients in these neurodegenerative conditions. By means of high-resolution melting, we screened the coding regions of NPC1 and NPC2 for rare genetic variation in a homogenous German sample of patients clinically diagnosed with PD (n = 563), FTLD (n = 133) and PSP (n = 94), and 846 population-based controls. The frequencies of rare sequence variants in NPC1/2 did not differ significantly between patients and controls. Disease-associated NPC1/2 mutations were found in six PD patients (1.1%) and seven control subjects (0.8%), but not in FTLD or PSP. All rare variation was detected in the heterozygous state and no compound heterozygotes were observed. Our data do not support the hypothesis that rare NPC1/2 variants confer susceptibility for PD, FTLD, or PSP in the German population. Misdiagnosed NPC patients were not present in our samples. However, further assessment of NPC disease genes in age-related neurodegeneration is warranted.
    Keywords Medicine ; R ; Science ; Q
    Subject code 610
    Language English
    Publishing date 2013-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    More links

    Kategorien

To top